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    GNAL G protein subunit alpha L [ Homo sapiens (human) ]

    Gene ID: 2774, updated on 27-Nov-2024

    Summary

    Official Symbol
    GNALprovided by HGNC
    Official Full Name
    G protein subunit alpha Lprovided by HGNC
    Primary source
    HGNC:HGNC:4388
    See related
    Ensembl:ENSG00000141404 MIM:139312; AllianceGenome:HGNC:4388
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HG1O; DYT25
    Summary
    This gene encodes a stimulatory G protein alpha subunit which mediates odorant signaling in the olfactory epithelium. This protein couples dopamine type 1 receptors and adenosine A2A receptors and is widely expressed in the central nervous system. Mutations in this gene have been associated with dystonia 25 and this gene is located in a susceptibility region for bipolar disorder and schizophrenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
    Expression
    Ubiquitous expression in brain (RPKM 7.2), prostate (RPKM 5.5) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
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    Genomic context

    See GNAL in Genome Data Viewer
    Location:
    18p11.21
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (11689264..11885685)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (11851607..12048391)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (11689263..11885684)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene nuclear pore complex interacting protein family member B1, pseudogene Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_47746 Neighboring gene microRNA 7153 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:11689154-11689654 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:11696745-11697246 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr18:11714059-11714618 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:11732672-11733280 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:11737507-11738276 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:11775153-11775652 Neighboring gene ASNS pseudogene 6 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:11796263-11796399 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13095 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13096 Neighboring gene Sharpr-MPRA regulatory region 95 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:11856862-11858061 Neighboring gene uncharacterized LOC124904251 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:11861344-11862250 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:11875590-11875801 Neighboring gene uncharacterized LOC124904252 Neighboring gene charged multivesicular body protein 1B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9301 Neighboring gene uncharacterized LOC101927511 Neighboring gene metallophosphoesterase 1 Neighboring gene CRISPRi-validated cis-regulatory element chr18.397 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:11951641-11952330 Neighboring gene Sharpr-MPRA regulatory region 7933 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13098 Neighboring gene inositol monophosphatase 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    Related articles in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Dystonia 25 Compare labs

    EBI GWAS Catalog

    Description
    Drug-gene interactions and the search for missing heritability: a cross-sectional pharmacogenomics study of the QT interval.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables G protein activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables G protein-coupled receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables G-protein beta/gamma-subunit complex binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables GTP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables adenylate cyclase regulator activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in adenylate cyclase-activating dopamine receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in sensory perception of chemical stimulus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in sensory perception of smell ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extracellular exosome HDA PubMed 
    part_of heterotrimeric G-protein complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    guanine nucleotide-binding protein G(olf) subunit alpha
    Names
    adenylate cyclase-stimulating G alpha protein, olfactory type
    guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type
    guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide, olfactory type
    heterotrimeric guanine nucleotide-binding protein 1O

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_033866.1 RefSeqGene

      Range
      5250..201671
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001142339.3NP_001135811.1  guanine nucleotide-binding protein G(olf) subunit alpha isoform 2

      See identical proteins and their annotated locations for NP_001135811.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and initiates translation at an alternate start codon, compared to variant 1. Variants 3 and 4 encode the same isoform (2), which is shorter and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AK290054, AP001269, CB241142
      Consensus CDS
      CCDS11852.1
      UniProtKB/Swiss-Prot
      B7ZA26, P38405, Q86XU3
      UniProtKB/TrEMBL
      A8K1Y9, Q8N2B4
      Related
      ENSP00000269162.4, ENST00000269162.9
      Conserved Domains (1) summary
      cd00066
      Location:43375
      G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
    2. NM_001261443.2NP_001248372.1  guanine nucleotide-binding protein G(olf) subunit alpha isoform 2

      See identical proteins and their annotated locations for NP_001248372.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and initiates translation at an alternate start codon, compared to variant 1. Variants 3 and 4 encode the same isoform (2), which is shorter and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AK313902, AP001269, CB241142
      Consensus CDS
      CCDS11852.1
      UniProtKB/Swiss-Prot
      B7ZA26, P38405, Q86XU3
      UniProtKB/TrEMBL
      A8K1Y9, Q8N2B4
      Related
      ENSP00000439023.1, ENST00000535121.5
      Conserved Domains (1) summary
      cd00066
      Location:43375
      G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
    3. NM_001261444.2NP_001248373.1  guanine nucleotide-binding protein G(olf) subunit alpha isoform 3

      See identical proteins and their annotated locations for NP_001248373.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, lacks a large portion of the 5' coding region and initiates translation at a downstream, in-frame start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AK316141, AP001269, CB241142
      Consensus CDS
      CCDS58614.1
      UniProtKB/Swiss-Prot
      P38405
      Related
      ENSP00000473600.1, ENST00000602628.1
      Conserved Domains (1) summary
      cd00066
      Location:1168
      G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
    4. NM_001369387.1NP_001356316.1  guanine nucleotide-binding protein G(olf) subunit alpha isoform 2

      Status: REVIEWED

      Source sequence(s)
      AI024119, AP001120, AP001269, BC050021, DA151077, DC414694, L10665
      Consensus CDS
      CCDS11852.1
      UniProtKB/Swiss-Prot
      B7ZA26, P38405, Q86XU3
      UniProtKB/TrEMBL
      A8K1Y9, Q8N2B4
      Related
      ENSP00000408489.2, ENST00000423027.8
      Conserved Domains (1) summary
      cd00066
      Location:43375
      G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
    5. NM_182978.4NP_892023.1  guanine nucleotide-binding protein G(olf) subunit alpha isoform 1

      See identical proteins and their annotated locations for NP_892023.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AP001120, AP001269, BC050021, CB241142
      Consensus CDS
      CCDS11851.1
      UniProtKB/Swiss-Prot
      P38405
      Related
      ENSP00000334051.5, ENST00000334049.11
      Conserved Domains (1) summary
      cd00066
      Location:120452
      G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      11689264..11885685
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006722324.4XP_006722387.1  guanine nucleotide-binding protein G(olf) subunit alpha isoform X1

      Conserved Domains (1) summary
      cl21455
      Location:120240
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      11851607..12048391
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054318532.1XP_054174507.1  guanine nucleotide-binding protein G(olf) subunit alpha isoform X1

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_002071.3: Suppressed sequence

      Description
      NM_002071.3: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.